ClinVar Miner

Submissions for variant NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met)

gnomAD frequency: 0.00006  dbSNP: rs199422213
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731628 SCV000859472 uncertain significance not provided 2018-02-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000512618 SCV002788945 uncertain significance Alpha-1-antitrypsin deficiency 2022-03-24 criteria provided, single submitter clinical testing
OMIM RCV000019609 SCV000039907 other PI Z(BRISTOL) 2016-07-15 no assertion criteria provided literature only
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital RCV000512618 SCV000608312 likely pathogenic Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation

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